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Gene: HLA-DQB1 |
Gene summary for HLA-DQB1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | HLA-DQB1 | Gene ID | 3119 |
| Gene name | major histocompatibility complex, class II, DQ beta 1 | |
| Gene Alias | CELIAC1 | |
| Cytomap | 6p21.32 | |
| Gene Type | protein-coding | GO ID | GO:0001775 | UniProtAcc | Q5SU54 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 3119 | HLA-DQB1 | GSM4909282 | Human | Breast | IDC | 2.95e-03 | 2.35e-01 | -0.0288 |
| 3119 | HLA-DQB1 | GSM4909287 | Human | Breast | IDC | 1.97e-03 | 3.24e-01 | 0.2057 |
| 3119 | HLA-DQB1 | GSM4909290 | Human | Breast | IDC | 9.08e-05 | 3.15e-01 | 0.2096 |
| 3119 | HLA-DQB1 | GSM4909319 | Human | Breast | IDC | 1.17e-02 | 5.10e-03 | 0.1563 |
| 3119 | HLA-DQB1 | M1 | Human | Breast | IDC | 1.86e-03 | 2.93e-01 | 0.1577 |
| 3119 | HLA-DQB1 | NCCBC11 | Human | Breast | DCIS | 6.24e-06 | 7.22e-01 | 0.1232 |
| 3119 | HLA-DQB1 | NCCBC3 | Human | Breast | DCIS | 2.83e-33 | 8.48e-01 | 0.1198 |
| 3119 | HLA-DQB1 | NCCBC5 | Human | Breast | DCIS | 4.50e-07 | 4.94e-01 | 0.2046 |
| 3119 | HLA-DQB1 | CA_HPV_1 | Human | Cervix | CC | 1.59e-18 | 7.53e-01 | 0.0264 |
| 3119 | HLA-DQB1 | CA_HPV_2 | Human | Cervix | CC | 4.58e-02 | -1.77e-01 | 0.0391 |
| 3119 | HLA-DQB1 | HSIL_HPV_1 | Human | Cervix | HSIL_HPV | 1.90e-03 | 3.51e-01 | 0.0116 |
| 3119 | HLA-DQB1 | CCI_1 | Human | Cervix | CC | 1.34e-02 | -7.14e-01 | 0.528 |
| 3119 | HLA-DQB1 | CCII_1 | Human | Cervix | CC | 1.43e-08 | -7.57e-01 | 0.3249 |
| 3119 | HLA-DQB1 | Tumor | Human | Cervix | CC | 6.29e-12 | -5.76e-01 | 0.1241 |
| 3119 | HLA-DQB1 | sample1 | Human | Cervix | CC | 2.07e-07 | 4.52e-01 | 0.0959 |
| 3119 | HLA-DQB1 | sample3 | Human | Cervix | CC | 5.89e-13 | -6.45e-01 | 0.1387 |
| 3119 | HLA-DQB1 | H2 | Human | Cervix | HSIL_HPV | 4.14e-09 | -1.88e-01 | 0.0632 |
| 3119 | HLA-DQB1 | T1 | Human | Cervix | CC | 5.77e-14 | 3.87e-01 | 0.0918 |
| 3119 | HLA-DQB1 | T3 | Human | Cervix | CC | 1.65e-13 | -5.95e-01 | 0.1389 |
| 3119 | HLA-DQB1 | AEH-subject2 | Human | Endometrium | AEH | 2.60e-02 | 2.43e-01 | -0.2525 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:000225312 | Cervix | HSIL_HPV | activation of immune response | 40/737 | 375/18723 | 1.12e-08 | 1.30e-06 | 40 |
| GO:000276411 | Cervix | HSIL_HPV | immune response-regulating signaling pathway | 46/737 | 468/18723 | 1.17e-08 | 1.30e-06 | 46 |
| GO:004800214 | Cervix | HSIL_HPV | antigen processing and presentation of peptide antigen | 15/737 | 62/18723 | 1.22e-08 | 1.30e-06 | 15 |
| GO:001988414 | Cervix | HSIL_HPV | antigen processing and presentation of exogenous antigen | 13/737 | 47/18723 | 2.00e-08 | 1.93e-06 | 13 |
| GO:005087012 | Cervix | HSIL_HPV | positive regulation of T cell activation | 28/737 | 216/18723 | 3.07e-08 | 2.59e-06 | 28 |
| GO:00160643 | Cervix | HSIL_HPV | immunoglobulin mediated immune response | 27/737 | 207/18723 | 4.74e-08 | 3.59e-06 | 27 |
| GO:00197243 | Cervix | HSIL_HPV | B cell mediated immunity | 27/737 | 210/18723 | 6.42e-08 | 4.49e-06 | 27 |
| GO:000246011 | Cervix | HSIL_HPV | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 37/737 | 356/18723 | 7.84e-08 | 5.32e-06 | 37 |
| GO:00024431 | Cervix | HSIL_HPV | leukocyte mediated immunity | 41/737 | 440/18723 | 3.14e-07 | 1.76e-05 | 41 |
| GO:00024493 | Cervix | HSIL_HPV | lymphocyte mediated immunity | 35/737 | 350/18723 | 4.45e-07 | 2.36e-05 | 35 |
| GO:001988215 | Cervix | HSIL_HPV | antigen processing and presentation | 17/737 | 106/18723 | 8.01e-07 | 3.94e-05 | 17 |
| GO:00027681 | Cervix | HSIL_HPV | immune response-regulating cell surface receptor signaling pathway | 32/737 | 315/18723 | 9.80e-07 | 4.68e-05 | 32 |
| GO:0002429 | Cervix | HSIL_HPV | immune response-activating cell surface receptor signaling pathway | 28/737 | 291/18723 | 1.29e-05 | 4.09e-04 | 28 |
| GO:0002757 | Cervix | HSIL_HPV | immune response-activating signal transduction | 28/737 | 291/18723 | 1.29e-05 | 4.09e-04 | 28 |
| GO:000238111 | Cervix | HSIL_HPV | immunoglobulin production involved in immunoglobulin-mediated immune response | 11/737 | 70/18723 | 8.48e-05 | 1.87e-03 | 11 |
| GO:00508513 | Cervix | HSIL_HPV | antigen receptor-mediated signaling pathway | 22/737 | 240/18723 | 2.15e-04 | 3.83e-03 | 22 |
| GO:005085211 | Cervix | HSIL_HPV | T cell receptor signaling pathway | 13/737 | 123/18723 | 1.12e-03 | 1.36e-02 | 13 |
| GO:004578516 | Endometrium | AEH | positive regulation of cell adhesion | 96/2100 | 437/18723 | 5.50e-11 | 7.18e-09 | 96 |
| GO:002240714 | Endometrium | AEH | regulation of cell-cell adhesion | 79/2100 | 448/18723 | 2.90e-05 | 5.40e-04 | 79 |
| GO:001988415 | Endometrium | AEH | antigen processing and presentation of exogenous antigen | 16/2100 | 47/18723 | 2.96e-05 | 5.47e-04 | 16 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0516922 | Breast | IDC | Epstein-Barr virus infection | 45/867 | 202/8465 | 3.16e-07 | 6.05e-06 | 4.52e-06 | 45 |
| hsa0461223 | Breast | IDC | Antigen processing and presentation | 24/867 | 78/8465 | 4.61e-07 | 8.33e-06 | 6.23e-06 | 24 |
| hsa0414522 | Breast | IDC | Phagosome | 34/867 | 152/8465 | 8.00e-06 | 9.99e-05 | 7.48e-05 | 34 |
| hsa0541623 | Breast | IDC | Viral myocarditis | 18/867 | 60/8465 | 1.85e-05 | 2.01e-04 | 1.50e-04 | 18 |
| hsa0516624 | Breast | IDC | Human T-cell leukemia virus 1 infection | 40/867 | 222/8465 | 2.52e-04 | 2.21e-03 | 1.66e-03 | 40 |
| hsa0532321 | Breast | IDC | Rheumatoid arthritis | 21/867 | 93/8465 | 3.69e-04 | 3.15e-03 | 2.36e-03 | 21 |
| hsa0494014 | Breast | IDC | Type I diabetes mellitus | 12/867 | 43/8465 | 9.40e-04 | 7.28e-03 | 5.44e-03 | 12 |
| hsa0533012 | Breast | IDC | Allograft rejection | 11/867 | 38/8465 | 1.09e-03 | 8.26e-03 | 6.18e-03 | 11 |
| hsa0533210 | Breast | IDC | Graft-versus-host disease | 11/867 | 42/8465 | 2.66e-03 | 1.80e-02 | 1.35e-02 | 11 |
| hsa0514012 | Breast | IDC | Leishmaniasis | 16/867 | 77/8465 | 4.35e-03 | 2.57e-02 | 1.92e-02 | 16 |
| hsa0532010 | Breast | IDC | Autoimmune thyroid disease | 12/867 | 53/8465 | 6.29e-03 | 3.30e-02 | 2.47e-02 | 12 |
| hsa0516932 | Breast | IDC | Epstein-Barr virus infection | 45/867 | 202/8465 | 3.16e-07 | 6.05e-06 | 4.52e-06 | 45 |
| hsa0461233 | Breast | IDC | Antigen processing and presentation | 24/867 | 78/8465 | 4.61e-07 | 8.33e-06 | 6.23e-06 | 24 |
| hsa0414532 | Breast | IDC | Phagosome | 34/867 | 152/8465 | 8.00e-06 | 9.99e-05 | 7.48e-05 | 34 |
| hsa0541633 | Breast | IDC | Viral myocarditis | 18/867 | 60/8465 | 1.85e-05 | 2.01e-04 | 1.50e-04 | 18 |
| hsa0516634 | Breast | IDC | Human T-cell leukemia virus 1 infection | 40/867 | 222/8465 | 2.52e-04 | 2.21e-03 | 1.66e-03 | 40 |
| hsa0532331 | Breast | IDC | Rheumatoid arthritis | 21/867 | 93/8465 | 3.69e-04 | 3.15e-03 | 2.36e-03 | 21 |
| hsa0494015 | Breast | IDC | Type I diabetes mellitus | 12/867 | 43/8465 | 9.40e-04 | 7.28e-03 | 5.44e-03 | 12 |
| hsa0533013 | Breast | IDC | Allograft rejection | 11/867 | 38/8465 | 1.09e-03 | 8.26e-03 | 6.18e-03 | 11 |
| hsa0533211 | Breast | IDC | Graft-versus-host disease | 11/867 | 42/8465 | 2.66e-03 | 1.80e-02 | 1.35e-02 | 11 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Breast | DCIS |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Breast | Healthy |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Breast | IDC |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Cervix | ADJ |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Cervix | CC |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Cervix | Healthy |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Cervix | Precancer |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | AD |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | ADJ |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | FAP |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | MSI-H |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | MSS |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | SER |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Endometrium | ADJ |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Endometrium | AEH |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Endometrium | EEC |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Endometrium | Healthy |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | HNSCC | ADJ |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | HNSCC | Healthy |
| HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | HNSCC | OSCC |
| Page: 1 2 3 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| HLA-DQB1 | SNV | Missense_Mutation | rs546609663 | c.169N>T | p.Arg57Cys | p.R57C | protein_coding | deleterious(0) | probably_damaging(0.963) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| HLA-DQB1 | SNV | Missense_Mutation | c.743N>A | p.Gly248Asp | p.G248D | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
| HLA-DQB1 | SNV | Missense_Mutation | c.515N>T | p.Ala172Val | p.A172V | protein_coding | deleterious(0.05) | benign(0.018) | TCGA-CM-6162-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatin | SD | ||
| HLA-DQB1 | SNV | Missense_Mutation | novel | c.109N>A | p.Glu37Lys | p.E37K | protein_coding | tolerated(0.35) | benign(0.005) | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| HLA-DQB1 | SNV | Missense_Mutation | novel | c.655G>A | p.Glu219Lys | p.E219K | protein_coding | deleterious(0) | possibly_damaging(0.511) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| HLA-DQB1 | SNV | Missense_Mutation | rs749609676 | c.71N>C | p.Met24Thr | p.M24T | protein_coding | deleterious(0.02) | benign(0.028) | TCGA-AG-A023-01 | Colorectum | rectum adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |
| HLA-DQB1 | SNV | Missense_Mutation | rs9273989 | c.494N>A | p.Arg165Gln | p.R165Q | protein_coding | deleterious(0.04) | benign(0.263) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
| HLA-DQB1 | SNV | Missense_Mutation | c.100N>A | p.Asp34Asn | p.D34N | protein_coding | deleterious(0.03) | possibly_damaging(0.597) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | ||
| HLA-DQB1 | SNV | Missense_Mutation | rs9273989 | c.494G>A | p.Arg165Gln | p.R165Q | protein_coding | deleterious(0.04) | benign(0.263) | TCGA-AX-A05Y-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
| HLA-DQB1 | SNV | Missense_Mutation | novel | c.718N>A | p.Leu240Met | p.L240M | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | ticlopidine | TICLOPIDINE | 17339877 | |
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | carbamazepine | CARBAMAZEPINE | 24399721 | |
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | amoxicillin | AMOXICILLIN | 10535882,30664875 | |
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | flucloxacillin | FLOXACILLIN | 30664875 | |
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | Drugs For Treatment Of Tuberculosis | 25250564,12359646 | ||
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | acetaminophen | ACETAMINOPHEN | 21545408 | |
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | clavulanate | CLAVULANIC ACID | 10535882,30664875 | |
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | bucillamine | BUCILLAMINE | ||
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | flupirtine | FLUPIRTINE | 26959717 | |
| 3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | nevirapine | NEVIRAPINE |
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